{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"submitter":["Zwimpfer TA"],"funding":["NCRR NIH HHS","NCI NIH HHS"],"pubmed_abstract":["<i>BRCA</i>-associated homologous recombination deficiency (HRD) is present in ~50% of high-grade serous carcinomas (HGSC) and predicts sensitivity to platinum-based therapy. However, there is little understanding of why some patients with <i>BRCA</i>-deficient tumors experience unexpectedly poor outcomes. We profiled 154 tumors, enriched for patients with <i>BRCA</i>-deficient tumors that experienced short overall survival (≤3 years, n=42), using whole-genome, transcriptome, and methylation analyses. All but one <i>BRCA</i>-deficient tumor exceeded an accepted HRD genomic scarring threshold. However, patients with <i>BRCA1</i>-deficient HGSC with a more elevated HRD score survived significantly longer. Patients with <i>BRCA2</i>-deficient HGSC and loss of <i>NF1</i> survived twice as long"],"journal":["medRxiv : the preprint server for health sciences"],"pagination":["2025.09.17.25335919"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12486008"],"repository":["biostudies-literature"],"pubmed_title":["Beyond &lt;i&gt;BRCA&lt;/i&gt; deficiency: Clinical and molecular predictors of survival in patients with &lt;i&gt;BRCA&lt;/i&gt;-deficient tubo-ovarian high-grade serous carcinoma."],"pmcid":["PMC12486008"],"funding_grant_id":["R21 CA267050","R01 CA172404","P50 CA136393","R01 CA248288","P30 CA015083","K07 CA080668","R01 CA168758","M01 RR000056","R01 CA095023"],"pubmed_authors":["Heitz F","Kaznowska E","Kobel M","Boros J","Lubinski J","Cohen PA","Welz J","Nelson BH","Garsed DW","Olbrecht S","Mohan GR","Gronwald J","van-Wagensveld L","Alsop J","Gentry-Maharaj A","Jones ME","Salfinger SG","Walter C","Crowe P","Ekici AB","Rodriguez-Antona C","Konecny G","Chiu DS","Staebler A","David C","Van Gorp T","Kelemen LE","Zwimpfer TA","Orsulic S","Lester J","Fischer A","Bolithon A","Modugno F","Neuhausen SL","Heikaus S","Jimenez-Linan M","Pearce CL","Fortner RT","Karlan BY","Heublein S","Gayther SA","Friedlander ML","Meagher NS","Hamilton P","Roxburgh P","Talhouk A","Bowtell DDL","Winterhoff B","Olawaiye AB","Conrads TP","Horlings HM","Sundfeldt K","Van Nieuwenhuysen E","Loverix L","Huntsman DG","Schildkraut JM","Cushing-Haugen KL","Candido Dos Reis FJ","Coulson P","Kwon J","Garcia MJ","Goodman MT","Wilkens LR","Lambrechts D","van der Aa MA","Wentzensen N","Lee CH","Stewart CJR","Bodelon C","Blome F","Wu AH","Laumont CM","Taylor SE","Cybulski C","Samra S","Garcia-Closas M","Kennedy CJ","Wang C","Emons J","Antoniou AC","Wahner-Hendrickson AE","Bisinotto C","Hartkopf AD","Engler T","Linder A","Pharoah PDP","Kruitwagen RFPM","Kang E","Pike MC","Harter P","Winham SJ","Swerdlow AJ","Twomey L","Quinn CM","Sinn HP","Schoemaker MJ","Davidson T","Tarney CM","Fereday S","Maxwell GL","Steele L","Hettiaratchi A","Fasching PA","Ray-Coquard I","Tan A","Nelson GS","Christie EL","Nevins N","Carney ME","Jayawardana MW","Van de Vijver KK","Hernandez BY","Kommoss FKF","Kluz T","Berchuck A","Milne K","Farrell R","Darcy KM","Doherty JA","Leung SCY","Ghatage P","Menon U","Brand AH","Mateoiu C","Beckmann MW","Ramus SJ","Harris HR","Pandey A","Sonke GS","Moubarak M","Ariyaratne D","Chudecka-Glaz A","DeFazio A","Berrington de Gonzalez A","Osorio A","Cazorla-Jimenez A","Hartmann A","Vergote I","Ruebner M","Brenton JD","Elishaev E","Glasspool R","Anglesio MS","McNeish IA","Au-Yeung G","Leung Y","Lissowska J","Goode EL"],"additional_accession":[]},"is_claimable":false,"name":"Beyond &lt;i&gt;BRCA&lt;/i&gt; deficiency: Clinical and molecular predictors of survival in patients with &lt;i&gt;BRCA&lt;/i&gt;-deficient tubo-ovarian high-grade serous carcinoma.","description":"<i>BRCA</i>-associated homologous recombination deficiency (HRD) is present in ~50% of high-grade serous carcinomas (HGSC) and predicts sensitivity to platinum-based therapy. However, there is little understanding of why some patients with <i>BRCA</i>-deficient tumors experience unexpectedly poor outcomes. We profiled 154 tumors, enriched for patients with <i>BRCA</i>-deficient tumors that experienced short overall survival (≤3 years, n=42), using whole-genome, transcriptome, and methylation analyses. All but one <i>BRCA</i>-deficient tumor exceeded an accepted HRD genomic scarring threshold. However, patients with <i>BRCA1</i>-deficient HGSC with a more elevated HRD score survived significantly longer. Patients with <i>BRCA2</i>-deficient HGSC and loss of <i>NF1</i> survived twice as long","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Sep","modification":"2026-06-10T03:09:44.145Z","creation":"2026-06-10T03:07:14.804Z"},"accession":"S-EPMC12486008","cross_references":{"pubmed":["41040691"],"doi":["10.1101/2025.09.17.25335919"]}}